A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663810



Internal ID9929915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86951726..86952785hg38UCSC Ensembl
chr4:87872878..87873937hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6022320, essv5684407, essv6482416, essv5450015, essv6296644, essv5901460, essv5762121, essv5813628, essv6124889, essv6557839, essv5878864, essv5903964
SamplesNA12400, NA07346, NA19723, NA19062, HG00133, NA19347, NA20525, NA18853, HG00123, NA12830, NA20786, NA18989
Known GenesAFF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663810
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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